Targeted Familial Variant Analysis

Requisition Form: Requisition Form

ACTN1, ADAMTS13, ANKRD26, ANO6, AP3B1, BLOC1S3, BLOC1S6, C16ORF57, C3, C4BPA, C4BPB, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, CSF3R, CXCR4, CYCS, DGKE, DTNBP1, ELANE, ETV6, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, G6PC3, GATA1, GATA2, GFI1, GFI1B, GGCX, GP1BA, GP1BB, GP6, GP9, HAX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, ITGA2B, ITGB3, JAGN1, KNG1, LAMTOR2, LMAN1, LMNA, LYST, MCFD2, MPL, MYH9, NBEAL2, P2RY12, PLA2G4A, PLAT, PRKACG, PROC, PROS1, RAB24A, RAC2, RASGRP2, RBM8A, RUNX1, SBDS, SERPINA1, SERPINC1, SERPINE1, SERPINF2, Single Exon Sequencing, SLC37A4, STIM1, STXBP2, TAZ, TBXA2R, TCIRG1, THBD, TUBB1, USB1, VIPAS39, VKORC1, VPS13B, VPS33B, VPS45, VWF, WAS, WIPF1

Targeted genetic analysis is used to determine if a specific familial variant is present. Testing is only available for genes tested by Versiti Hematology Genetics menu. Please provide a copy of the family member's lab report for the variant being tested.

Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood

If original testing was not performed by Versiti Wisconsin, Inc. it is recommended that sample from an affected relative be provided as a positive control along with the patient sample. The control confirms the targeted variant and is not reported.

Room Temperature

2-5 mL EDTA Whole Blood or Bone Marrow (lavendar top), 3-4 Buccal Swabs, 1 ug DNA at 50 ng/ul, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum)

Fetal: Call Laboratory; Parental/Patient: 2 mL

81403 for known familial variant not otherwise specified (for each variant exon)

PCR amplification and bidirectional Sanger sequence analysis of the requested exon(s) are performed.

21 days, unless otherwise specified